Cystic fibrosis

Cystic fibrosis (CF) is an autosomal recessive disorder characterized by pulmonary disease, pancreatic insufficiency, elevated sweat chloride levels, and male infertility. CF affects approximately 30,000 children and adults in the US, and approximately 10 million Americans are CF carriers. Ambry Genetics is committed to caregivers and patients in the CF community through diagnostic testing, research, education, and support for advocacy groups.


Quick Reference
Test Code: 1000 Test Name: CFTR seq TAT 5-13 days Gene: 1
Test Code: 1002 Test Name: 508FIRST reflex seq & del/dup TAT 5-13 days Gene: 1
Test Code: 1004 Test Name: CFTR del/dup TAT 5-13 days Gene: 1
Test Code: 1006 Test Name: CFTR seq reflex del/dup TAT 5-13 days Gene: 1
Test Code: 1007 Test Name: CFTR seq and del/dup TAT 5-13 days Gene: 1
Test Code: 1008 Test Name: CFTR specific site analysis TAT 7-14 days Gene: 1
Test Code: 1018 Test Name: CF102 screening panel TAT 5-13 days Gene: 1

Ordering Options

When To Consider Testing

  • Confirm a diagnosis of CF in individuals with a known or suspected diagnosis based on symptoms 
  • Carrier screening for those at increased risk to be a carrier based on ethnicity, specific symptoms, family history, and/or for partners of individuals that are CF carriers (for reproductive/prenatal genetic testing purposes) 
  • Confirm a diagnosis in pregnancies identified to be at increased risk for CF (e.g. echogenic bowel, other indicators)

Carrier Risk and Detection Rates:

Ethnic Group A Priori Carrier Risk   Estimated Detection Rate** Residual Risk to be a Carrier***
Sequencing Sequencing & Del/Dup Sequencing Sequencing & Del/Dup
Ashkenazi Jewish 1/24 97-98% ~ 99% ~ 1/959 ~ 1/2301
Non-Hispanic Caucasian 1/25 97-98% ~ 99% ~ 1/1001 ~ 1/2401
Hispanic American* 1/58 97-98% ~ 99% ~ 1/2376 ~ 1/5701
African American 1/61 97-98% ~ 99% ~ 1/2501 ~ 1/6001
Asian American 1/94 97-98% ~ 99% ~ 1/3876 ~ 1/9301
  • * This is a pooled set of data and requires additional information to predict risk accurately for specific Hispanic populations.
  • ** Based on Ambry’s empirical data.
  • *** Based on a negative family history.
  • Clinical sensitivity for CF genetic screening depends on the test ordered and the ethnic background of the patient.  Gene sequencing and deletion/duplication anaylisis can detect mutations in 99% of people with a clinical diagnosis of CF (clinical sensitivity).  Ambry's cystic fibrosis testing can detect >99.9% of described mutations in the CFTR gene, when present (analytic sensitivity).

Test Description

  • CFTR seq:  Full NGS sequencing of all coding regions of the CFTR gene; known pathogenic alterations in non-coding regions will also be reported
  • 508First reflex seq and del/dup:  Analysis of the most common CFTR pathogenic mutation (p.F508del), followed by full NGS sequencing and deletion/duplication testing by MLPA of the CFTR gene if p.F508del is not detected
  • CFTR del/dup:  Gross deletion/duplication testing of the CFTR gene by MLPA
  • CFTR seq reflex del/dup:  Full NGS sequencing of the CFTR gene, followed by gross deletion/duplication testing by MLPA if sequencing is negative
  • CFTR seq and del/dup:  Simultaneous full NGS sequencing and gross deletion/duplication testing by MLPA of the CFTR gene
  • CFTR specific site analysis:  Targeted testing for a CFTR alteration previously identified in your patient's family
  • CF102:  Testing for >100 of the most common pathogenic mutations in the CFTR gene (see list below)

Note: Poly T and TG tract results will be included on the report in the following situations:

For sequencing:

  • The “Report Poly T / TG Status” box is checked on the Test Requisition Form
  • The p.R117H mutation is detected
  • Anytime a 5T is detected

For screening panel:

  • The “Report Poly T / TG Status” box is checked on the Test Requisition Form (additional cost)
  • The p.R117H mutation is detected (no additional cost) 

CF102 includes detection of the following specific mutations in the CFTR gene:

c.178G>T (p.E60*) c.1397C>G (p.S466*) c.2834C>T (p.S945L)
c.200C>T (p.P67L) c.1400T>C (p.L467P) c.2988G>A (3120G>A)
c.223C>T (p.R75*) c.1438G>T (p.G480C) c.2988+1G>A (3120+1G>A)
c.254G>A (p.G85E) c.1466C>A (p.S489*) c.3067_3072delATAGTG (3199del6)
c.262_263delTT (394delTT) c.1477C>T (p.Q493*) c.3095A>G (p.Y1032C)
c.273+1G>A (405+1G>A) c.1519_1521delATC (p.I507del) c.3124C>T (p.Q1042*)
c.274-1G>A (406-1G>A) c.1521_1523delCTT (p.F508del) c.3140-26A>G (3272-26A>G)
c.274G>T (p.E92*) c.1558G>T (p.V520F) c.3181G>C (p.G1061R)
c.292C>T (p.Q98*) c.1585-1G>A (1717-1G>A) c.3196C>T (p.R1066C)
c.293A>G (p.Q98R) c.1624G>T (p.G542*) c.3197G>A (p.R1066H)
c.346G>A (p.E116K) c.1646G>A (p.S549N) c.3208C>T (p.R1070W)
c.349C>T (p.R117C) c.1651G>A (p.G551S) c.3230T>C (p.L1077P)
c.350G>A (p.R117H) c.1652G>A (p.G551D) c.3266G>A (p.W1089*)
c.489+1G>T (621+1G>T) c.1654C>T (p.Q552*) c.3276C>A (p.Y1092*)
c.531delT (663delT) c.1657C>T (p.R553*) c.3302T>A (p.M1101K)
c.532G>A (p.G178R) c.1679G>C (p.R560T) c.3454G>C (p.D1152H)
c.579+1G>T (711+1G>T) c.1687T>A (p.Y563N) c.3468G>A (3600G>A)
c.658C>T (p.Q220*) c.1753G>T (p.E585*) c.3472C>T (p.R1158*)
c.803delA (935delA) c.1766+1G>A (1898+1 G>A) c.3484C>T (p.R1162*)
c.948delT (1078delT) c.1766+3A>G (1898+3A>G) c.3528delC (3659delC)
c.988G>T (p.G330*) c.1817_1900del84 (1949del84) c.3587C>G (p.S1196*)
c.1000C>T (p.R334W) c.1923_1931del9insA (2055del9>A) c.3612G>A (p.W1204*)
c.1001G>A (p.R334Q) c.2012delT (2143delT) c.3717+12191C>T (3849+10kbC>T)
c.1013C>T (p.T338I) c.2051_2052delAAinsG (2183AA>G) c.3731G>A (p.G1244E)
c.1022_1023insTC (1154insTC) c.2052delA (2184delA) c.3744delA (3876delA)
c.1040G>A (p.R347H) c.2052insA (2184insA) c.3752G>A (p.S1251N)
c.1040G>C (p.R347P) c.2125C>T (p.R709*) c.3773_3774insT (3905insT)
c.1052C>T (p.T351I) c.2175_2176insA (2307insA) c.3846G>A (p.W1282*)
c.1116+1G>A (1248+1G>A) c.2215delG (2347delG) c.3873+2T>C (4005+2T>C)
c.1150G>T (p.E384*) c.2290C>T (p.R764*) c.3909C>G (p.N1303K)
c.1153_1154insAT (1288insTA) c.2453delT (2585delT) c.4077_4080delTGTTinsAA (4209TGTT>AA)
c.1240C>T (p.Q414*) c.2490+1G>A (2622+1G>A) c.4111G>T (p.E1371*)
c.1340delA (1471delA) c.2657+2_2657+3insA (2789+2insA) EX2del
c.1364C>A (p.A455E) c.2657+5G>A (2789+5G>A) EX2_3del
c.1397C>A(p.S466*) c.2735C>A(p.S912*)  

† If p.R117H is detected, then reflex poly T / TG repeat analysis is performed.


For further explanation or to determine the best testing option for your specific patient, call +1 949-900-5500 and ask to speak to one of Ambry's General Genetic Specialists.

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